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Evidence from human experience and various animal models suggests that agnathia\u2010holoprosencephaly represents a causally heterogeneous single developmental field defect. Anatomical studies of these two stillborn sisters support the view that they shared a developmental field defect which affected structures in the face, cranial cavity, and upper neck. The pathogenesis of these variably expressed defects probably relates to defects in neural crest cells of cranial origin and\/or to underlying mesodermal support elements of these cells.<\/jats:p>","DOI":"10.1002\/ajmg.1320140411","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T15:34:49Z","timestamp":1118504089000},"page":"677-698","source":"Crossref","is-referenced-by-count":75,"title":["Familial agnathia\u2010holoprosencephaly"],"prefix":"10.1002","volume":"14","author":[{"given":"Richard M.","family":"Pauli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James C.","family":"Pettersen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunita","family":"Arya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enid 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